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Brachydactyly type B
1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Brachydactyly type B
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

ROR2
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ROR2
(0.56)
IKBKG


Citations in the biomedical literature:


Brachydactyly type B
ROR2
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG



Brachydactyly type B
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Brachydactyly type B

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm


X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

(no data available)